Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000069487 Individual ID 00090114 Associated disease PN Phenotype details Poikiloderma started as a rash since age 3 m; neutropenia; pachyonychia; hyperkeratosis; cellulitis; mastoiditis; history of mild anemia; increased myeloid precursors in bone marrow. Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination - Age/Diagnosis 01y08m Age/Onset 00y03m Phenotype/Onset - Protein - Owner name Elisa Adele Colombo Database submission license No license selected Created by Elisa Adele Colombo Date created 2016-12-06 15:11:01 +01:00 (CET) Date last edited N/A

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